S-Adenosylhomocysteine hydrolase deficiency: A second patient, the younger brother of the index patient, and outcomes during therapy-Reference-Cited by-同舟云学术

S-Adenosylhomocysteine hydrolase deficiency: A second patient, the younger brother of the index patient, and outcomes during therapy

Published:2005-12 Issue:6 Volume:28 Page:885-902
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Barić I.,Ćuk M.,Fumić K.,Vugrek O.,Allen R. H.,Glenn B.,Maradin M.,Pažanin L.,Pogribny I.,Radoš M.,Sarnavka V.,Schulze A.,Stabler S.,Wagner C.,Zeisel S. H.,Mudd S. H.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/s10545-005-0192-9

Reference42 articles.

1. Allen RH, Stabler SP, Lindenbaum J (1993) Serum betaine, N, N-dimethylglycine and N-methylglycine levels in patients with cobalamin and folate deficiency and related inborn errors of metabolism. Metabolism 42: 1448–1460.

2. Barić I, Fumić K, Glenn B, et al (2004) S-Adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism. Proc Natl Acad Sci USA 101: 4234–4239.

3. Bradford MM (1976) A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein–dye binding. Anal Biochem 72: 248–254.

4. Brosnan JT, Jacobs RL, Stead LM, Brosnan ME (2004) Methylation demand: a key determinant of homocysteine metabolism. Acta Biochimica Polonica 51: 405–413.

5. Capdevila A, Wagner C (1998) Measurement of plasma S-adenosylmethionine and S-adenosylhomocysteine as their fluorescent isoindoles. Analyt Biochem 264: 180–184.

Cited by 72 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Dysmorphic Findings in SAHH Deficiency with a Novel Variant in the <i>AHCY</i> Gene;Molecular Syndromology;2024-06-11

2. Inborn Errors of Purine Salvage and Catabolism;Metabolites;2023-06-24

3. Sulfur content in foods and beverages and its role in human and animal metabolism: A scoping review of recent studies;Heliyon;2023-04

4. The biochemical profile and dietary management in S-adenosylhomocysteine hydrolase deficiency;Molecular Genetics and Metabolism Reports;2022-09

5. Case Report: Advanced Skeletal Muscle Imaging in S-Adenosylhomocysteine Hydrolase Deficiency and Further Insight Into Muscle Pathology;Frontiers in Pediatrics;2022-04-08